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Genetics

News, opinions and meeting coverage in genetics.

FDA APPROVED ponatinib (Iclusig) over a computer rendering of the destruction of lymphoblast cells

FDA Approves New Frontline Regimen for Aggressive ALL

Ponatinib lands indication in combination with chemo for Philadelphia chromosome-positive cases

A photo of a physician performing a lumbar puncture

Spinal Delivery of Gene Therapy Promising for Neurodegenerative Disease

Early-phase clinical trial was suggestive of slower progression of giant axonal neuropathy

A computer rendering of prostate cancer.

Mutation Linked to Increased Risk of Prostate Cancer Mortality

Cancer-specific mortality twice as high in patients with specific genotype for HSD3B1 allele

A medical illustration of glaucoma.

Higher Polygenic Risk Score Tied to Increased Risk for Glaucoma

Risk scores may allow action before irreversible damage occurs in those with ocular hypertension

A photo of a female physician talking to her mature female patient in the MRI room.

Cancer Prevention Strategies Linked to Mortality Reduction in BRCA Carriers

Cohort studies indicate oophorectomy, breast MRI surveillance save lives, researchers say

AAAAI over a photo of Walter E. Washington Convention Center in Washington, DC

Oral Drug Gains Steam as On-Demand Option for Hereditary Angioedema Attacks

Investigational sebetralstat offered symptom relief in under 2 hours

A photo of Joni Rutter, PhD

Faster Cures, More Genetic Treatments: A Q&A With NIH's Joni Rutter

The NCATS Biomedical Data Translator is giving researchers ideas for new disease therapies

A computer rendering of a transparent body with the appendix highlighted

Potential Biomarker for Perforated Appendicitis Shows Link to Severe Sepsis

Test that can differentiate between simple and perforated appendicitis is "highly desirable"

SMFM over a photo of Gaylord National Resort & Convention Center in National Harbor, MD

Genome Sequencing Identified Variants in Fetal Structural Anomalies

Researcher touts identification of "high percentage of genetic disorders"

A computer rendering of X and Y chromosomes.

A Clue on Why Lupus, Other Autoimmune Diseases Strike Far More Women Than Men

New research shows that the extra X chromosome is involved, but in an unexpected way

A photo of a male physician examining the ear of a little boy.

Novel Gene Therapy Allows Kids With Inherited Deafness to Hear

"This is real proof showing gene therapy is working," says researcher

A photo composite designed to resemble a relief of oxen hauling wagons, men, strands of DNA, viruses, and a neuron

MS Risk Linked to Ancient Migrations

Findings may help demystify multiple sclerosis

FDA APPROVED eplontersen (Wainua) over a computer rendering of amyloidosis

FDA Approves New Agent for Nerve Pain From Rare Inherited Disease

Eplontersen gets a nod for polyneuropathy from hereditary transthyretin-mediated amyloidosis

ASH over a photo of San Diego Convention Center.

Pomalidomide Cuts Severe Epistaxis in Genetic Bleeding Disorder

24 weeks of daily treatment significantly reduced recurrent nosebleeds in HHT trial

A computer rendering of a face inhaling a variety of viruses

Why Is VEXAS Syndrome Often Fatal? Here's an Answer

New study suggests immunodeficiency is a previously unrecognized feature

A computer rendering of DNA editing with CRISPR.

A Closer Look at the Approval of CRISPR/Cas9 Gene Therapy for Sickle Cell Disease

This landmark event brings up broader considerations and implications for other diseases

A computer rendering of the dorsal striatum and lateral ventricles in the brain of a person with Huntington鈥檚 disease

Antisense Drug Trial Provides Key Insights About Huntington's Disease

Lessons learned from investigational tominersen

Morning Break over illustration of a syringe, Covid virus, and DNA helix over a photo of green vegetation.

Jamie Foxx's Health Scare; 23andMe Hacked; Decongestant Probe Announced

Health news and commentary from around the Web gathered by 51成人动漫 staff

ACAAI over a photo of Anaheim Convention Center in Anaheim, California.

Here's Why People Think They Developed Food Allergies

Survey finds that 13% thought genetics were responsible, 27% blamed eating behaviors

AHA over a photo of Pennsylvania Convention Center in Philadelphia, Pennsylvania

Promising Debut for CRISPR Gene Editing Therapy for LDL Lowering

Preliminary data support concept of "molecular surgery" on PCSK9 gene

Zoonotic Spillovers; DNA and RNA Testing for Cancer Risk

Also in TTHealthWatch: genes and health conditions among Icelanders

FDA APPROVED ADAMTS13, recombinant-krhn (Adzynma) over a computer rendering of a blood clot.

First Treatment Approved for Genetic Clotting Disorder

Adzynma indicated as prophylactic or on-demand enzyme replacement therapy in cTTP

FDA ADCOMM exagamglogene autotemcel (exa-cel) over a computer rendering of sickle cells in the bloodstream.

Potential Cure for Sickle Cell Clears Hurdle for Approval

FDA advisors suggest the benefits of gene therapy outweigh risks of off-target editing

A photo of a pipette in a petri dish laying on top of a DNA sequencing gel.

Quick Genetic Test Offers Hope for Sick, Undiagnosed Kids, but Few Insurers Cover It

Test can "change the trajectory of these children's diseases"

HFSA over a photo of Huntington Convention Center in Cleveland, Ohio.

FDA Turns Down ATTR Cardiomyopathy Drug

Decision cites insufficient evidence of clinical meaningfulness

A computer rendering of the female reproductive system in the pelvis.

In BRCA Breast Cancer, Prophylactic Salpingo-Oophorectomy Tied to Better Survival

PSO should be performed early, particularly for those with the BRCA1 variant, researchers say

FDA APPROVED nedosiran (Rivfloza) over a computer rendering of a transparent kidney with kidney stones.

FDA OKs Another Injectable for Rare Kidney Disorder

Nedosiran approved for patients ages 9 years and older with primary hyperoxaluria type 1

FDA APPROVED cipaglucosidase alfa (Pombiliti) plus miglustat (Opfolda) over a muscle biopsy showing accumulation of glycogen.

New Option OK'd for Pompe Disease

FDA approves two-component therapy for patients not improving on enzyme replacement therapy

A computer rendering of the dorsal striatum and lateral ventricles in Huntington鈥檚 disease

Huntington's Disease More Severe in Black Patients at Baseline

Outreach to families of minority patients may help identify genetic disorder

FDA ADCOMM patisiran (Onpattro) over a medical illustration of cardiomyopathy over a microscopy of heart amyloid deposits

FDA Panel Reluctantly Backs Patisiran for ATTR Cardiomyopathy

Clinical meaningfulness is a different question, however

A photo of a box of Trikafta over CT scans of a male with sinusitis.

Some Sinus Relief for Cystic Fibrosis Patients on Trikafta

Lung function, BMI, bacterial swabs, sweat chloride levels also improved

A photo of a healthcare worker drawing blood from an infant.

Rapid Genome Sequencing in Infants With Epilepsy Shows Immediate Benefit

Pilot study suggests early testing for seizures, regardless of treatment setting

FDA APPROVED pozelimab (Veopoz) over a micrograph of the intestinal tissue of a child with CHAPLE disease.

Ultra-Rare Immune System Disease Gets First FDA-Approved Treatment

Pozelimab reduced hospitalizations, albumin transfusions in CHAPLE disease patients

A close up of a woman鈥檚 eye yellowed by jaundice.

Gene Therapy Promising for Rare Jaundice Syndrome

Early-phase data suggest a dose that can keep bilirubin in check without hours of phototherapy

Photo of a doctor checking a sports athlete with a stethoscope.

Cautious Return-to-Play Appears Safe for Athletes With Heart Conditions

Shift away from blanket restrictions is not placing top-tier athletes at undue risk, data suggest

A graphical representation of a genome sequence map.

Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants

Whole genome scans took longer than a commercially available test, but not for most urgent cases

A computer rendering of damaged nerve cells caused by multiple sclerosis.

MS Disease Severity Tied to Genetic Variant

Findings mark a significant breakthrough in understanding how MS progresses

FDA ADCOMM palovarotene over a photo of a skeleton of a person who suffered from fibrodysplasia ossificans progressiva

FDA Staff Weighs 'Alternative' Data on Retinoid for Rare Bone Disorder

Challenges of drug development in fibrodysplasia ossificans progressiva on full display

A computer rendering of aortic dissection.

Bicuspid Aortic Valves and Aortopathy Cluster Among Close Relatives

Large study supports wider screening of family members of probands

A computer rendering of fat cells.

High-Dose Leptin Reversed Severe Genetic Obesity in Two Patients

Metreleptin doses several times higher than recommended brought weight down to near normal

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